Variant report

Variant	rs3889332
Chromosome Location	chr10:49688855-49688856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:49688828-49689287	K562	blood:	n/a	chr10:49689034-49689044
2	TEAD4	chr10:49688768-49689638	K562	blood:	n/a	n/a
3	MAX	chr10:49688824-49689427	K562	blood:	n/a	chr10:49689034-49689044
4	CEBPD	chr10:49688846-49689366	K562	blood:	n/a	n/a
5	POLR2A	chr10:49688504-49689613	K562	blood:	n/a	n/a
6	CUX1	chr10:49688738-49689394	K562	blood:	n/a	n/a
7	ZNF143	chr10:49688797-49689174	K562	blood:	n/a	n/a
8	ARID3A	chr10:49688764-49689166	K562	blood:	n/a	n/a
9	HDAC2	chr10:49688791-49689299	K562	blood:	n/a	chr10:49689123-49689132
10	GATA1	chr10:49688670-49689550	PBDE	blood:	n/a	chr10:49689113-49689130 chr10:49689122-49689132 chr10:49689122-49689131 chr10:49689124-49689134
11	NR2F2	chr10:49688789-49689337	K562	blood:	n/a	n/a
12	RCOR1	chr10:49688739-49689199	K562	blood:	n/a	n/a
13	POLR2A	chr10:49688641-49688889	U87	brain:	n/a	n/a
14	MYC	chr10:49688850-49689519	K562	blood:	n/a	chr10:49689034-49689044
15	RCOR1	chr10:49688623-49689584	K562	blood:	n/a	n/a
16	POLR2A	chr10:49688805-49689431	K562	blood:	n/a	n/a

Variant related genes	Relation type
ARHGAP22	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10776606	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1077960	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10857577	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857578	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10857579	0.88[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10857580	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857582	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11101348	0.83[CHB][hapmap]
rs11101349	0.83[CHB][hapmap]
rs11817012	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3888298	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3910908	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4080664	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4342982	0.81[ASN][1000 genomes]
rs4838413	0.83[CHB][hapmap]
rs4838596	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs4838608	0.83[CHB][hapmap]
rs4838609	0.83[CHB][hapmap]
rs6537565	0.83[CHB][hapmap]
rs7070411	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7098760	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49679200-49690400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:49679800-49689000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:49679800-49704200	Weak transcription	NH-A	brain
4	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial
5	chr10:49681200-49689200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr10:49683400-49689200	Strong transcription	NHLF	lung
7	chr10:49683800-49689600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:49684000-49689000	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr10:49684800-49690600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:49684800-49693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr10:49685000-49689000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:49685600-49701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:49685800-49692000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr10:49685800-49692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr10:49685800-49694800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:49685800-49704800	Weak transcription	HUVEC	blood vessel
17	chr10:49686400-49690200	Enhancers	Primary hematopoietic stem cells	blood
18	chr10:49687000-49704400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:49687400-49689000	Weak transcription	Spleen	Spleen
20	chr10:49687400-49694800	Weak transcription	HSMM	muscle
21	chr10:49687600-49689200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:49687600-49689400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:49687600-49703800	Weak transcription	HSMMtube	muscle
24	chr10:49687800-49689000	Weak transcription	Right Ventricle	heart
25	chr10:49687800-49689400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr10:49687800-49699200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:49688400-49689400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:49688400-49689600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:49688600-49689000	Enhancers	Fetal Intestine Small	intestine
30	chr10:49688600-49689200	Enhancers	Fetal Heart	heart
31	chr10:49688600-49689200	Enhancers	Right Atrium	heart
32	chr10:49688600-49689400	Enhancers	Left Ventricle	heart
33	chr10:49688600-49689800	Enhancers	Fetal Intestine Large	intestine
34	chr10:49688600-49690800	Flanking Active TSS	K562	blood
35	chr10:49688600-49693800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:49688800-49689200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:49688800-49689200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr10:49688800-49689400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:49688800-49699400	Weak transcription	Osteobl	bone

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